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Title: On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association
Authors: Fryns, Jean-Pierre ×
Smeets, E
Van den Berghe, Herman #
Issue Date: Sep-1995
Publisher: Munksgaard
Series Title: Clinical Genetics vol:48 issue:3 pages:131-3
Abstract: We describe a male child with prenatal growth retardation, true microcephaly, pedal lymphoedema and characteristic ocular anomalies. Ophthalmological examination revealed remnants of the posterior hyaloidea, more pronounced in the right eye where a retinal fold extended from the papilla into the vitreum, chorioretinal dysplasia with narrow retinal vessels, multiple large round areas of chorioretinal atrophy and atrophic papillae. The associations "Microcephaly-chorioretinal dysplasia", "Microcephaly-retinal folds" and "Microcephaly-lymphoedema" have been reported as separate autosomal dominant conditions. The findings in the present child suggest that these associations could be variable expressions of the same autosomal dominant condition.
ISSN: 0009-9163
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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